1Department of Medical Biology and Genetics, Akdeniz University, School of Medicine, ANTALYA, TURKEY2Department of Pathology, Akdeniz University, School of Medicine, ANTALYA, TURKEY3Department of Medical Biology and Genetics, SANKO University, School of Medicine, GAZİANTEP, TURKEY4Department of Biostatistics and Medical Informatics, Akdeniz University, School of Medicine, ANTALYA, TURKEY5Department of Obstetrics and Gynecology, Akdeniz University, School of Medicine, ANTALYA, TURKEY

Objective: About 15% of clinically recognized pregnancies result
in spontaneous abortion in the first trimester and the vast majority
of these are the result of chromosome abnormalities. Studies of
chromosomal constitutions of first trimester spontaneous abortions
have revealed that at least 50% of the abortions have an abnormal
karyotype. In this study we aimed to report the single centre
experience of anomalies detected in spontaneous abortions.

Material and Method: We present rare numerical and structural
cytogenetic abnormalities detected in spontaneous abortion materials
and the histopathological findings of rest material of abortion
specimens in our study population.

Results: Among 457 cases, 382 were successfully karyotyped while
cell culture of 75 cases failed. Cytogenetic abnormalities were
detected in 127 of 382 cases (33.24%). Autosomal trisomies were the
predominant chromosomal abnormalities with a frequency of 48.8%.
Structural chromosomal abnormalities were infrequent in conception
materials. The mean age of the mothers was highest in trisomy group,
the difference being significantly important (ANOVA p< 0.001). The
most frequent chromosomal abnormalities were Turner syndrome,
triploidy and trisomy of chromosome 16 followed by trisomy of
chromosomes 22 and 21 and tetraploidy. Double trisomies and
structural chromosomal abnormalities were rare. Trisomies were
more frequent in advanced maternal age.

Conclusion: Detection of chromosomal abnormalities in spontaneous
abortion materials is very important to clarify the causes of loss of
pregnancy. Detection of structural chromosomal abnormalities
in the cases and their carrier parents can provide proper genetic
counseling to these families. These families can be directed towards
pre-implantation genetic diagnosis to prevent further pregnancies
with complications.